Inter-individual variations in the genes encoding xenobiotic-metabolizing enzymes have been reported to alter susceptibility to various diseases involving hematological disorders. The purpose of this case–control study was to investigate the relationship between CYP2D6*4 and GSTP1 Ile105Val polymorphisms and the risk of developing BCR-ABL1 negative myeloproliferative neoplasms (MPN). PCR-RFLP was used for genotyping single nucleotide polymorphisms (SNP) in CYP2D6 and GSTP1 in 139 patients with MPN and 126 controls. There was a significantly increased risk for developing BCR-ABL1 negative MPN for the group bearing the CYP2D6*4 variant allele (X²: 4.487; OR 1.738; 95% CI 1.040–2.904; p = 0.034). The platelet count was higher in CYP2D6*4 allele carriers (p = 0.047). There was no association between the GSTP1 Ile105Val polymorphism and the risk of developing MPNs. MPN patients bearing the GSTP1 Ile105Val variant allele had a higher prevalence of bleeding complications (X²: 7.510; OR 4.635; 95% CI 1.466–14.650; p = 0.006). Our study provides new data that the CYP2D6*4 polymorphism may be associated with an increased risk to develop MPNs while the GSTP1 Ile105Val polymorphism does not show such an association. To our knowledge, the current study is the first to investigate the relationship between CYP2D6*4 and GSTP1 Ile105Val polymorphisms and the risk of developing MPNs in the Turkish population. Further studies with more patients and controls are needed to support our data.

据报道，异种代谢酶编码基因的个体间差异会改变对涉及血液系统疾病的各种疾病的敏感性。本病例对照研究的目的是研究CYP2D6 * 4和GSTP1 Ile105Val多态性与发生BCR-ABL1阴性骨髓增生性肿瘤（MPN）的风险之间的关系。PCR-RFLP用于139例MPN患者和126例对照的CYP2D6和GSTP1中的单核苷酸多态性（SNP）基因分型。携带CYP2D6 * 4变异等位基因的人群发生BCR-ABL1阴性MPN的风险显着增加（X ²：4.487; 或1.738; 95％CI 1.040–2.904；p = 0.034）。CYP2D6 * 4等位基因携带者的血小板计数更高（p = 0.047）。GSTP1 Ile105Val多态性与发展MPN的风险之间没有关联。携带GSTP1 Ile105Val变异等位基因的MPN患者出血并发症发生率较高（X ²：7.510； OR 4.635； 95％CI 1.466-14.650； p = 0.006）。我们的研究提供了新的数据，CYP2D6 * 4多态性可能与MPN发生风险增加有关，而GSTP1 Ile105Val多态性并未显示出这种关联。据我们所知，本研究是第一个研究CYP2D6 * 4之间关系的研究。和GSTP1 Ile105Val多态性以及在土耳其人口中发展MPN的风险。需要更多患者和对照的进一步研究来支持我们的数据。